A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1917155



Internal ID17870406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11349001..11423739hg38UCSC Ensembl
Innerchr12:11501935..11576673hg19UCSC Ensembl
Innerchr12:11393202..11467940hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3874739
hg1974739
hg1874739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976576
Supporting Variants
SamplesHGDP01284
Known GenesPRB1, PRB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1917155
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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